Incidental Mutation 'R4043:Col6a4'
ID 313942
Institutional Source Beutler Lab
Gene Symbol Col6a4
Ensembl Gene ENSMUSG00000032572
Gene Name collagen, type VI, alpha 4
Synonyms Vwa6, EG235580, 1110001D15Rik, Dvwa
MMRRC Submission 041615-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4043 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 105866653-105973982 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 105949610 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 675 (L675*)
Ref Sequence ENSEMBL: ENSMUSP00000112472 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000121963]
AlphaFold A2AX52
Predicted Effect probably null
Transcript: ENSMUST00000121963
AA Change: L675*
SMART Domains Protein: ENSMUSP00000112472
Gene: ENSMUSG00000032572
AA Change: L675*

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
VWA 32 211 2.44e-35 SMART
VWA 233 410 8.67e-50 SMART
VWA 428 604 2.74e-29 SMART
VWA 632 816 4.78e-20 SMART
VWA 847 1019 3.02e-40 SMART
VWA 1028 1204 3.17e-43 SMART
VWA 1210 1391 4.73e-1 SMART
low complexity region 1444 1462 N/A INTRINSIC
PDB:3HR2|B 1469 1593 3e-7 PDB
low complexity region 1594 1622 N/A INTRINSIC
low complexity region 1625 1643 N/A INTRINSIC
low complexity region 1649 1671 N/A INTRINSIC
Pfam:Collagen 1684 1748 1.4e-9 PFAM
VWA 1774 1953 2.18e-14 SMART
VWA 1980 2174 1.89e-9 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137847
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 92.9%
Validation Efficiency 97% (64/66)
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf3 T C 5: 30,409,360 (GRCm39) N44D probably benign Het
AU018091 A G 7: 3,208,962 (GRCm39) F375L probably damaging Het
Bsph1 G T 7: 13,192,201 (GRCm39) probably null Het
Casp1 A G 9: 5,302,444 (GRCm39) D122G probably benign Het
Ccdc146 C T 5: 21,521,941 (GRCm39) C361Y probably benign Het
Cdc37l1 T C 19: 28,968,028 (GRCm39) S31P possibly damaging Het
Cdca2 A T 14: 67,941,455 (GRCm39) M249K probably benign Het
Cfap73 C T 5: 120,768,030 (GRCm39) probably null Het
Cgnl1 A G 9: 71,612,575 (GRCm39) L749S probably damaging Het
Cmtr2 C A 8: 110,948,462 (GRCm39) C257* probably null Het
Cpne8 A T 15: 90,456,204 (GRCm39) D186E probably damaging Het
Csmd3 A G 15: 47,619,362 (GRCm39) probably null Het
Daglb T A 5: 143,472,906 (GRCm39) Y354N possibly damaging Het
Dlgap1 T C 17: 71,068,075 (GRCm39) S549P probably damaging Het
Dnah11 T C 12: 117,843,678 (GRCm39) D4389G probably damaging Het
Dst T A 1: 34,229,765 (GRCm39) C2631S probably benign Het
Gimap1 T A 6: 48,720,176 (GRCm39) W263R probably damaging Het
Gne A C 4: 44,040,383 (GRCm39) C594G possibly damaging Het
Gtf2a1 T C 12: 91,542,441 (GRCm39) H47R probably benign Het
Hdac6 T C X: 7,797,731 (GRCm39) T993A probably benign Het
Helz2 T C 2: 180,871,503 (GRCm39) D2703G probably benign Het
Jmjd1c G A 10: 67,055,245 (GRCm39) V222I possibly damaging Het
Katnip A G 7: 125,467,913 (GRCm39) I1366V probably benign Het
Kndc1 A G 7: 139,504,044 (GRCm39) E1116G probably benign Het
Krt10 C T 11: 99,277,819 (GRCm39) probably null Het
Lrrc37a T G 11: 103,389,479 (GRCm39) H1982P possibly damaging Het
Med13l T A 5: 118,731,528 (GRCm39) L68Q probably damaging Het
Megf10 C A 18: 57,392,870 (GRCm39) D422E probably damaging Het
Mpz C T 1: 170,987,340 (GRCm39) probably benign Het
Muc5ac A T 7: 141,361,215 (GRCm39) T1508S possibly damaging Het
Myo3a C T 2: 22,338,350 (GRCm39) probably benign Het
Ndnf A T 6: 65,680,920 (GRCm39) N400Y possibly damaging Het
Or5h24 G A 16: 58,919,124 (GRCm39) T77I unknown Het
Or6p1 T C 1: 174,258,657 (GRCm39) I221T probably damaging Het
Or7g35 G T 9: 19,496,291 (GRCm39) V153F probably benign Het
Otol1 A G 3: 69,935,112 (GRCm39) D368G probably damaging Het
Pappa A G 4: 65,232,824 (GRCm39) N1321S probably benign Het
Patl1 T A 19: 11,920,314 (GRCm39) L756Q probably damaging Het
Plcg2 A G 8: 118,339,717 (GRCm39) M1043V probably benign Het
Plekhg2 G A 7: 28,064,144 (GRCm39) probably benign Het
Ppp2r2d G A 7: 138,484,145 (GRCm39) W265* probably null Het
Ppp4r3c1 A G X: 88,975,909 (GRCm39) F96S probably damaging Het
Prss40 G T 1: 34,599,960 (GRCm39) S9* probably null Het
Radil T A 5: 142,479,988 (GRCm39) I471F probably benign Het
Radx C T X: 138,407,752 (GRCm39) S364L probably damaging Het
Rpl10l A T 12: 66,330,977 (GRCm39) M52K probably damaging Het
Scn1a A T 2: 66,156,380 (GRCm39) S510T possibly damaging Het
Sdad1 T G 5: 92,450,553 (GRCm39) N194T probably damaging Het
Sel1l3 A T 5: 53,345,396 (GRCm39) Y259* probably null Het
Slc22a26 T C 19: 7,765,694 (GRCm39) probably null Het
Snap91 C T 9: 86,659,102 (GRCm39) G477D probably damaging Het
Spata6l A T 19: 28,923,183 (GRCm39) C80S possibly damaging Het
Srr T C 11: 74,799,947 (GRCm39) T202A probably benign Het
Srrm1 C T 4: 135,068,242 (GRCm39) probably benign Het
Trp53bp2 T A 1: 182,276,626 (GRCm39) L869Q possibly damaging Het
Ttbk1 T A 17: 46,757,688 (GRCm39) D982V probably benign Het
Ttn T C 2: 76,624,501 (GRCm39) T15324A probably benign Het
Ush1c T C 7: 45,870,952 (GRCm39) E276G probably damaging Het
Vcan T A 13: 89,840,662 (GRCm39) L1627F probably benign Het
Vps8 A C 16: 21,345,146 (GRCm39) D823A probably damaging Het
Zfp616 T A 11: 73,976,108 (GRCm39) N792K possibly damaging Het
Zfpm2 A T 15: 40,734,023 (GRCm39) D2V possibly damaging Het
Zfyve16 A C 13: 92,650,271 (GRCm39) probably null Het
Zmym2 T A 14: 57,195,765 (GRCm39) probably benign Het
Other mutations in Col6a4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00573:Col6a4 APN 9 105,900,095 (GRCm39) missense probably benign 0.00
IGL00691:Col6a4 APN 9 105,934,606 (GRCm39) missense probably damaging 1.00
IGL01508:Col6a4 APN 9 105,890,804 (GRCm39) missense possibly damaging 0.95
IGL01580:Col6a4 APN 9 105,945,397 (GRCm39) missense probably damaging 1.00
IGL01610:Col6a4 APN 9 105,924,906 (GRCm39) splice site probably benign
IGL01813:Col6a4 APN 9 105,954,452 (GRCm39) missense probably damaging 1.00
IGL01933:Col6a4 APN 9 105,937,313 (GRCm39) missense probably benign 0.04
IGL01973:Col6a4 APN 9 105,940,093 (GRCm39) missense probably damaging 1.00
IGL02053:Col6a4 APN 9 105,940,294 (GRCm39) missense possibly damaging 0.92
IGL02063:Col6a4 APN 9 105,934,617 (GRCm39) missense probably benign 0.01
IGL02065:Col6a4 APN 9 105,954,302 (GRCm39) missense probably damaging 0.99
IGL02106:Col6a4 APN 9 105,940,304 (GRCm39) missense possibly damaging 0.95
IGL02220:Col6a4 APN 9 105,940,141 (GRCm39) missense possibly damaging 0.91
IGL02228:Col6a4 APN 9 105,945,277 (GRCm39) missense probably benign
IGL02234:Col6a4 APN 9 105,890,631 (GRCm39) missense possibly damaging 0.92
IGL02294:Col6a4 APN 9 105,943,931 (GRCm39) missense probably benign 0.04
IGL02314:Col6a4 APN 9 105,874,355 (GRCm39) missense probably damaging 0.99
IGL03065:Col6a4 APN 9 105,918,363 (GRCm39) splice site probably benign
IGL03086:Col6a4 APN 9 105,960,061 (GRCm39) splice site probably benign
IGL03185:Col6a4 APN 9 105,896,653 (GRCm39) missense probably damaging 0.97
R0092:Col6a4 UTSW 9 105,890,513 (GRCm39) missense probably benign 0.04
R0095:Col6a4 UTSW 9 105,952,555 (GRCm39) missense probably benign 0.03
R0230:Col6a4 UTSW 9 105,949,565 (GRCm39) missense probably benign 0.11
R0359:Col6a4 UTSW 9 105,874,345 (GRCm39) missense probably benign
R0415:Col6a4 UTSW 9 105,952,279 (GRCm39) missense probably damaging 0.99
R0433:Col6a4 UTSW 9 105,945,193 (GRCm39) missense probably damaging 0.99
R0450:Col6a4 UTSW 9 105,957,746 (GRCm39) missense probably damaging 1.00
R0469:Col6a4 UTSW 9 105,957,746 (GRCm39) missense probably damaging 1.00
R0490:Col6a4 UTSW 9 105,890,969 (GRCm39) missense probably damaging 0.99
R0621:Col6a4 UTSW 9 105,943,990 (GRCm39) missense probably damaging 0.97
R0667:Col6a4 UTSW 9 105,907,158 (GRCm39) splice site probably benign
R0681:Col6a4 UTSW 9 105,944,343 (GRCm39) nonsense probably null
R0690:Col6a4 UTSW 9 105,905,386 (GRCm39) splice site probably benign
R0714:Col6a4 UTSW 9 105,895,102 (GRCm39) unclassified probably benign
R0788:Col6a4 UTSW 9 105,949,197 (GRCm39) missense probably benign 0.15
R1036:Col6a4 UTSW 9 105,945,397 (GRCm39) missense probably damaging 1.00
R1296:Col6a4 UTSW 9 105,940,052 (GRCm39) missense possibly damaging 0.47
R1386:Col6a4 UTSW 9 105,940,144 (GRCm39) missense probably benign 0.15
R1484:Col6a4 UTSW 9 105,890,501 (GRCm39) critical splice donor site probably null
R1528:Col6a4 UTSW 9 105,952,419 (GRCm39) missense probably damaging 0.99
R1555:Col6a4 UTSW 9 105,878,085 (GRCm39) missense possibly damaging 0.93
R1622:Col6a4 UTSW 9 105,874,334 (GRCm39) missense probably benign 0.01
R1653:Col6a4 UTSW 9 105,949,608 (GRCm39) missense probably damaging 0.99
R1720:Col6a4 UTSW 9 105,903,671 (GRCm39) missense probably damaging 1.00
R1768:Col6a4 UTSW 9 105,957,299 (GRCm39) missense probably benign
R1941:Col6a4 UTSW 9 105,952,209 (GRCm39) missense probably benign 0.00
R2092:Col6a4 UTSW 9 105,937,530 (GRCm39) missense probably damaging 1.00
R2134:Col6a4 UTSW 9 105,943,860 (GRCm39) missense probably benign 0.09
R2149:Col6a4 UTSW 9 105,954,128 (GRCm39) missense probably benign 0.00
R2174:Col6a4 UTSW 9 105,937,331 (GRCm39) missense probably damaging 0.98
R2204:Col6a4 UTSW 9 105,937,331 (GRCm39) missense probably damaging 0.98
R2248:Col6a4 UTSW 9 105,957,158 (GRCm39) missense probably benign 0.15
R2568:Col6a4 UTSW 9 105,940,275 (GRCm39) missense possibly damaging 0.90
R3750:Col6a4 UTSW 9 105,897,864 (GRCm39) critical splice acceptor site probably null
R3751:Col6a4 UTSW 9 105,949,313 (GRCm39) missense probably damaging 0.98
R3776:Col6a4 UTSW 9 105,928,900 (GRCm39) nonsense probably null
R3872:Col6a4 UTSW 9 105,890,858 (GRCm39) missense possibly damaging 0.95
R4056:Col6a4 UTSW 9 105,903,665 (GRCm39) missense probably damaging 0.98
R4212:Col6a4 UTSW 9 105,952,569 (GRCm39) missense probably benign 0.28
R4417:Col6a4 UTSW 9 105,949,215 (GRCm39) missense probably damaging 0.99
R4683:Col6a4 UTSW 9 105,957,329 (GRCm39) missense probably benign 0.00
R4719:Col6a4 UTSW 9 105,945,451 (GRCm39) missense probably damaging 0.99
R4791:Col6a4 UTSW 9 105,957,401 (GRCm39) missense possibly damaging 0.68
R4833:Col6a4 UTSW 9 105,949,178 (GRCm39) missense probably benign 0.00
R4886:Col6a4 UTSW 9 105,937,271 (GRCm39) missense probably benign 0.00
R4998:Col6a4 UTSW 9 105,867,977 (GRCm39) utr 3 prime probably benign
R5091:Col6a4 UTSW 9 105,952,262 (GRCm39) missense probably damaging 1.00
R5113:Col6a4 UTSW 9 105,944,159 (GRCm39) missense possibly damaging 0.89
R5129:Col6a4 UTSW 9 105,890,576 (GRCm39) missense probably damaging 0.98
R5231:Col6a4 UTSW 9 105,902,730 (GRCm39) missense probably damaging 0.96
R5297:Col6a4 UTSW 9 105,952,066 (GRCm39) missense probably benign 0.02
R5352:Col6a4 UTSW 9 105,938,743 (GRCm39) missense probably damaging 1.00
R5438:Col6a4 UTSW 9 105,890,895 (GRCm39) missense possibly damaging 0.95
R5518:Col6a4 UTSW 9 105,949,387 (GRCm39) missense possibly damaging 0.68
R5657:Col6a4 UTSW 9 105,949,397 (GRCm39) missense probably damaging 0.99
R5660:Col6a4 UTSW 9 105,873,315 (GRCm39) missense probably benign 0.01
R5662:Col6a4 UTSW 9 105,945,200 (GRCm39) missense probably damaging 0.99
R5777:Col6a4 UTSW 9 105,890,895 (GRCm39) missense possibly damaging 0.95
R5800:Col6a4 UTSW 9 105,957,474 (GRCm39) missense probably damaging 0.99
R5929:Col6a4 UTSW 9 105,940,243 (GRCm39) missense probably benign 0.15
R5999:Col6a4 UTSW 9 105,945,120 (GRCm39) missense probably benign 0.11
R6243:Col6a4 UTSW 9 105,890,589 (GRCm39) missense possibly damaging 0.95
R6285:Col6a4 UTSW 9 105,952,185 (GRCm39) missense probably damaging 0.96
R6288:Col6a4 UTSW 9 105,945,462 (GRCm39) missense probably damaging 0.99
R6361:Col6a4 UTSW 9 105,943,902 (GRCm39) missense probably benign 0.28
R6485:Col6a4 UTSW 9 105,954,069 (GRCm39) critical splice donor site probably null
R6490:Col6a4 UTSW 9 105,952,191 (GRCm39) nonsense probably null
R6537:Col6a4 UTSW 9 105,945,153 (GRCm39) missense possibly damaging 0.87
R6598:Col6a4 UTSW 9 105,877,611 (GRCm39) missense probably damaging 0.99
R6643:Col6a4 UTSW 9 105,877,830 (GRCm39) missense probably damaging 0.96
R6905:Col6a4 UTSW 9 105,937,517 (GRCm39) splice site probably null
R6944:Col6a4 UTSW 9 105,949,370 (GRCm39) missense probably damaging 0.98
R7015:Col6a4 UTSW 9 105,910,954 (GRCm39) critical splice donor site probably null
R7027:Col6a4 UTSW 9 105,944,213 (GRCm39) missense probably damaging 1.00
R7088:Col6a4 UTSW 9 105,877,885 (GRCm39) missense possibly damaging 0.56
R7200:Col6a4 UTSW 9 105,949,448 (GRCm39) missense possibly damaging 0.68
R7238:Col6a4 UTSW 9 105,877,519 (GRCm39) missense probably damaging 0.99
R7273:Col6a4 UTSW 9 105,877,656 (GRCm39) missense possibly damaging 0.92
R7335:Col6a4 UTSW 9 105,954,091 (GRCm39) missense possibly damaging 0.90
R7418:Col6a4 UTSW 9 105,900,114 (GRCm39) missense probably damaging 1.00
R7421:Col6a4 UTSW 9 105,897,994 (GRCm39) missense probably damaging 0.99
R7530:Col6a4 UTSW 9 105,945,589 (GRCm39) missense probably damaging 0.99
R7600:Col6a4 UTSW 9 105,944,198 (GRCm39) missense possibly damaging 0.86
R7701:Col6a4 UTSW 9 105,960,087 (GRCm39) missense probably benign 0.17
R7830:Col6a4 UTSW 9 105,952,589 (GRCm39) missense probably damaging 0.99
R7881:Col6a4 UTSW 9 105,957,497 (GRCm39) missense probably benign 0.14
R8157:Col6a4 UTSW 9 105,945,097 (GRCm39) missense possibly damaging 0.92
R8292:Col6a4 UTSW 9 105,954,076 (GRCm39) missense probably benign 0.01
R8309:Col6a4 UTSW 9 105,952,414 (GRCm39) missense probably benign 0.08
R8336:Col6a4 UTSW 9 105,952,528 (GRCm39) missense possibly damaging 0.65
R8359:Col6a4 UTSW 9 105,945,583 (GRCm39) missense probably benign 0.00
R8530:Col6a4 UTSW 9 105,957,704 (GRCm39) missense probably benign 0.31
R8556:Col6a4 UTSW 9 105,944,252 (GRCm39) missense probably damaging 0.96
R8832:Col6a4 UTSW 9 105,949,353 (GRCm39) missense probably benign
R9001:Col6a4 UTSW 9 105,944,370 (GRCm39) missense probably benign 0.26
R9009:Col6a4 UTSW 9 105,954,404 (GRCm39) missense probably benign 0.38
R9069:Col6a4 UTSW 9 105,952,138 (GRCm39) missense possibly damaging 0.85
R9155:Col6a4 UTSW 9 105,952,209 (GRCm39) missense probably benign
R9175:Col6a4 UTSW 9 105,957,560 (GRCm39) missense probably benign
R9176:Col6a4 UTSW 9 105,938,755 (GRCm39) missense probably damaging 1.00
R9295:Col6a4 UTSW 9 105,957,734 (GRCm39) missense probably damaging 1.00
R9298:Col6a4 UTSW 9 105,945,534 (GRCm39) missense probably damaging 0.96
R9389:Col6a4 UTSW 9 105,877,983 (GRCm39) missense probably damaging 1.00
R9424:Col6a4 UTSW 9 105,945,271 (GRCm39) missense probably benign 0.30
R9576:Col6a4 UTSW 9 105,945,271 (GRCm39) missense probably benign 0.30
RF022:Col6a4 UTSW 9 105,954,207 (GRCm39) missense probably damaging 0.99
X0025:Col6a4 UTSW 9 105,877,654 (GRCm39) missense probably damaging 0.99
Z1176:Col6a4 UTSW 9 105,878,069 (GRCm39) missense probably damaging 0.99
Z1176:Col6a4 UTSW 9 105,877,996 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TGATGACCACAGCTATCTGC -3'
(R):5'- TCTTAGGCTGGAACTCTCTGTG -3'

Sequencing Primer
(F):5'- ATCTGCTGTACGCCCCGATG -3'
(R):5'- AGGCTGGAACTCTCTGTGTCTTTTG -3'
Posted On 2015-04-30